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The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.

Carbamoyl Phosphate Synthetase 1 Deficiency

Overview

Carbamoyl phosphate synthetase I deficiency (CPS) is a rare genetic condition. CPS results from a mutation (error) in the CPS1 gene. People with CPS cannot remove ammonia from their bodies. Ammonia is produced during the break down of proteins. Normally, our liver changes ammonia into less harmful urea which we then get rid of in our urine. This process is called the urea cycle and it depends on a number of special proteins (enzymes). If one of the enzymes needed is missing or not working correctly, the ammonia is not changed into urea and cannot be excreted in our urine. In CPS, the enzyme carbamoyl phosphate synthetase (CPS) is not working causing ammonia to build up in the bloodstream. Ammonia is very toxic. The brain is very sensitive to ammonia. p>

Signs of the most common form of CPS usually show shortly after birth. In the second form signs may begin to show during childhood or adulthood. Symptoms of CPS include poor appetite, vomiting, tiredness, seizures, trouble breathing, uncontrolled body movements, or delayed growth. Lack of treatment may lead to a coma. Treatment may include a specific diet to limit proteins as well as special medication. Special foods or formulas may also be needed. Lifelong management is needed to avoid delayed development and intellectual disabilities.

CPS is autosomal recessive. Early diagnosis has shown to be effective in improving the health of individuals with CPS Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor to determine which treatment options are best for your child. Support groups are a good source of information. A genetic counselor will help you understand the genetics.

This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.

Join other UCD families in the only registry in existence designed to accelerate new research specifically for UCDs. Patients & caregivers self-report their own unique experiences with UCD to help improve care and find new treatments.